|
|
|
题名
|
作者
|
年代
|
出处
|
被引量
|
| 1 | Acute cerebrovascular disease following COVID-19: a single center, retrospective, observational study显示文摘Background and purpose COVID-19 is an infectious disease caused by Severe Acute Respiratory Syndrome Coronavirus 2(SARS-CoV-2).Apart from respiratory complications,acute cerebrovascular disease(CVD)has been observed in some patients with COVID-19.Therefore,we described the clinical characteristics,laboratory features,treatment and outcomes of CVD complicating SARS-CoV-2 infection.Materials and methods Demographic and clinical characteristics,laboratory findings,treatments and clinical outcomes were collected and analysed.Clinical characteristics and laboratory findings of patients with COVID-19 with or without new-onset CVD were compared.Results Of 219 patients with COVID-19,10(4.6%)developed acute ischaemic stroke and 1(0.5%)had intracerebral haemorrhage.COVID-19 with new onset of CVD were significantly older(75.7±10.8 years vs 52.1±15.3 years,p<0.001),more likely to present with severe COVID-19(81.8%vs 39.9%,p<0.01)and were more likely to have cardiovascular risk factors,including hypertension,diabetes and medical history of CVD(all p<0.05).In addition,they were more likely to have increased inflammatory response and hypercoagulable state as reflected in C reactive protein(51.1(1.3-127.9)vs 12.1(0.1-212.0)mg/L,p<0.05)and D-dimer(6.9(0.3-20.0)vs 0.5(0.1-20.0)mg/L,p<0.001).Of 10 patients with ischemic stroke;6 received antiplatelet treatment with aspirin or clopidogrel;and 3 of them died.The other four patients received anticoagulant treatment with enoxaparin and 2 of them died.As of 24 March 2020,six patients with CVD died(54.5%).Conclusion Acute CVD is not uncommon in COVID-19.Our findings suggest that older patients with risk factors are more likely to develop CVD.The development of CVD is an important negative prognostic factor which requires further study to identify optimal management strategy to combat the COVID-19 outbreak. | Yanan Li Man Li Mengdie Wang Yifan Zhou Jiang Chang Ying Xian David Wang Ling Mao Huijuan Jin Bo Hu | 2020 | Stroke & Vascular Neurology2020，5，3： | 22 |
| 2 | Isolated Cases of Plague--Inner Mongolia-Beijing, 2019显示文摘What is already known about this topic?Plague is an acute infectious disease caused by Yersinia pestis(Y.pestis)and is primarily transmitted by rodents.Human can be infected by bites of bacterium-bearing fleas or direct contact with diseased or dead plagueinfected animals.In 2004,the last human plague case was reported in Inner Mongolia Autonomous Region due to skinning a dead hare.What is added by this report?This is the first case of pneumonic plague imported into a major city since the founding of the People's Republic of China.Two primary pneumonic plague cases(Patients A and B)found in residents of Inner Mongolia were confirmed in Beijing on November 12,2019.Another case(Patient C)of Y.pestis was identified as bubonic plague on November 14.Patient A most likely became infected from aerosol exposure to infective droplets while digging on his farm,located in an Meriones unguiculatus(M.unguiculatus)natural plague focus.Patient B became infected from contact with Patient A(her husband).Patient C became infected after skinning a dead hare.There was no epidemiological relationship between the Patient A/B and Patient C.What are the implications for public health practice?When epizootic plague is detected,local health-care providers and the public should be alerted about any possible risks.Public education efforts should focus on promoting personal protection measures. | Yumeng Wang Lei Zhou Mengguang Fan Quanyi Wang Jianyun Li Qun Li Zijian Feng George FGao Cheng Xu Lijuan Chen Wei Li Yanping Zhang | 2019 | China CDC weekly2019，1，1： | 13 |
| 3 | Epidemiological Data of Work-Related Musculoskeletal Disorders—China,2018–2020显示文摘Summary What is already known about this topic?In recent decades,work-related musculoskeletal disorders(WMSDs)have become increasingly prominent and have become an important issue that is of universal concern and an urgent need to be solved in all countries of the world.What is added by this report?The top three industries or occupational groups with the highest standardized prevalence rate of WMSDs were flight attendants,medical staff,and vegetable greenhouses in that order.Women workers were 1.5 times more likely to suffer from WMSDs than men workers. | Ning Jia Huadong Zhang Ruijie Ling Yimin Liu Gang Li Zaoliang Ren Yan Yin Hua Shao Hengdong Zhang Bing Qiu Meibian Zhang Dayu Wang Qiang Zeng Rugang Wang Jianchao Chen Danying Zhang Liangying Mei Yongquan Liu Jixiang Liu Chengyun Zhang Tianlai Li Qing Xu Ying Qu Xueyan Zhang Xin Sun Zhongxu Wang | 2021 | China CDC weekly2021，3，18： | 13 |
| 4 | Cardioembolic stroke:everything has changed显示文摘Historically,because of the difficulty of using warfarin safely and effectively,many patients with cardioembolic stroke who should have been anticoagulated were instead given ineffective antiplatelet therapy(or no antithrombotic therapy).With the arrival of new oral anticoagulants that are not significantly more likely than aspirin to cause severe haemorrhage,everything has changed.Because antiplatelet agents are much less effective in preventing cardioembolic stroke,it is now more prudent to anticoagulate patients in whom cardioembolic stroke is strongly suspected.Recent advances include the recognition that intermittent atrial fibrillation is better detected with more prolonged monitoring of the cardiac rhythm,and that percutaneous closure of patent foramen ovale(PFO)may reduce the risk of stroke.However,because in most patients with stroke and PFO the PFO is incidental,this should be reserved for patients in whom paradoxical embolism is likely.A high shunt grade on transcranial Doppler saline studies,and clinical clues to paradoxical embolism,can help in appropriate selection of patients for percutaneous closure.For patients with atrial fibrillation who cannot be anticoagulated,ablation of the left atrial appendage is an emerging option.It is also increasingly recognised that high levels of homocysteine,often due to undiagnosed metabolic deficiency of vitamin B_(12),markedly increase the risk of stroke in atrial fibrillation,and that B vitamins(folic acid and B_(12))do prevent stroke by lowering homocysteine.However,with regard to B_(12),methylcobalamin should probably be used instead of cyanocobalamin.Many important considerations for judicious application of therapies to prevent cardioembolic stroke are discussed. | J David Spence | 2018 | Stroke & Vascular Neurology2018，3，2： | 10 |
| 5 | Osteocyte dysfunction promotes osteoarthritis through MMP13-dependent suppression of subchondral bone homeostasis显示文摘Osteoarthritis(OA),long considered a primary disorder of articular cartilage,is commonly associated with subchondral bone sclerosis.However,the cellular mechanisms responsible for changes to subchondral bone in OA,and the extent to which these changes are drivers of or a secondary reaction to cartilage degeneration,remain unclear.In knee joints from human patients with end-stage OA,we found evidence of profound defects in osteocyte function.Suppression of osteocyte perilacunar/canalicular remodeling(PLR)was most severe in the medial compartment of OA subchondral bone,with lower protease expression,diminished canalicular networks,and disorganized and hypermineralized extracellular matrix.As a step toward evaluating the causality of PLR suppression in OA,we ablated the PLR enzyme MMP13 in osteocytes while leaving chondrocytic MMP13 intact,using Cre recombinase driven by the 9.6-kb DMP1 promoter.Not only did osteocytic MMP13 deficiency suppress PLR in cortical and subchondral bone,but it also compromised cartilage.Even in the absence of injury,osteocytic MMP13 deficiency was sufficient to reduce cartilage proteoglycan content,change chondrocyte production of collagen II,aggrecan,and MMP13,and increase the incidence of cartilage lesions,consistent with early OA.Thus,in humans and mice,defects in PLR coincide with cartilage defects.Osteocyte-derived MMP13 emerges as a critical regulator of cartilage homeostasis,likely via its effects on PLR.Together,these findings implicate osteocytes in bone-cartilage crosstalk in the joint and suggest a causal role for suppressed perilacunar/canalicular remodeling in osteoarthritis. | Courtney MMazur Jonathon JWoo Cristal SYee Aaron JFields Claire Acevedo Karsyn NBailey Serra Kaya Tristan WFowler Jeffrey CLotz Alexis Dang Alfred CKuo Thomas PVail Tamara Alliston | 2019 | Bone Research2019，7，4： | 10 |
| 6 | Genotyping-by-sequencing of pear (Pyrus spp.) accessions unravels novel patterns of genetic diversity and selection footprints显示文摘Understanding of genetic diversity and marker-trait relationships in pears(Pyrus spp.)forms an important part of gene conservation and cultivar breeding.Accessions of Asian and European pear species,and interspecific hybrids were planted in a common garden experiment.Genotyping-by-sequencing(GBS)was used to genotype 214 accessions,which were also phenotyped for fruit quality traits.A combination of selection scans and association analyses were used to identify signatures of selection.Patterns of genetic diversity,population structure and introgression were also investigated.About 15000 high-quality SNP markers were identified from the GBS data,of which 25%and 11%harboured private alleles for European and Asian species,respectively.Bayesian clustering analysis suggested negligible gene flow,resulting in highly significant population differentiation(Fst=0.45)between Asian and European pears.Interspecific hybrids displayed an average of 55%and 45%introgression from their Asian and European ancestors,respectively.Phenotypic(firmness,acidity,shape and so on)variation between accessions was significantly associated with genetic differentiation.Allele frequencies at large-effect SNP loci were significantly different between genetic groups,suggesting footprints of directional selection.Selection scan analyses identified over 20 outlier SNP loci with substantial statistical support,likely to be subject to directional selection or closely linked to loci under selection. | Satish Kumar Chris Kirk Cecilia Deng Claudia Wiedow Mareike Knaebel Lester Brewer | 2017 | Horticulture Research2017，4，1： | 8 |
| 7 | Factors Associated with Peripheral Neuropathy in Type 2 Diabetes: Subclinical versus Confirmed Neuropathy显示文摘This study determined the prevalence of diabetic peripheral neuropathy(DPN) and subclinical DPN(s DPN) in patients with type 2 diabetes mellitus(T2DM) using nerve conduction study(NCS) as a diagnostic tool. We also investigated the factors associated with the development of s DPN and compared factors between the sD PN and confirmed DPN(cDPN). This cross-sectional study involved 240 T2DM patients who were successively admitted to the endocrinology wards of Wuhan Union Hospital over the period of January to December 2014. Data on the medical history, physical and laboratory examinations were collected. DPN was diagnosed using NCS. One-way ANOVA with least significant difference(LSD) analysis or chi-square tests was used to compare parameters among DNP-free, s DPN and c DPN patients. Independent factors associated with s DPN were determined using logistic regression. The results showed that 50.8% of the participants had DPN, and among them, 17.1% had sDPN. sDPN showed significant independent associations with age, height, HbA1c, presence of atherosclerosis and diabetic retinopathy. Patients with DPN differed significantly from those without DPN with respect to age, duration of disease(DOD), HbA1c, presence of atherosclerosis, diabetic retinopathy, nephropathy and hypertension. Patients with cDPN, relative to those with sDPN, had significantly longer DOD and higher prevalence of peripheral artery disease(PAD) and coronary artery disease(CAD). Our study suggests that a significant number of T2DM patients are affected by s DPN, and the development of this condition is associated with advanced age, tall stature, poor glycaemic control, presence of diabetic retinopathy and atherosclerosis. On the other hand, patients with cDPN tend to have a longer DOD and are more likely to suffer from PAD and CAD. | Yogendranathsing Unmar Mohammad Ishraq Zafar 高峰 | 2017 | Journal of Huazhong University of Science and Technology(Medical Sciences)2017，37，3： | 8 |
| 8 | Nogo-A and the regulation of neurotransmitter receptors显示文摘Nogo-A is known to restrict plasticity in the adult central nervous system,and signalling through its cognate receptors modulates synaptic spine architecture and excitatory glutamate transmission via restricting synaptic glutamate receptor levels and their delivery to the post-synaptic compartments.A recent report now indicates that Nogo-A,signaling through Sphingosine-1-Phosphate Receptor 2,also strengthens inhibitory gamma amino acid butyric acid(GABA)ergic transmission by limiting the diffusion dynamics of GABAA receptors.This reciprocal modulation of excitatory and inhibitory signaling via neurotransmitter receptor dynamics by Nogo-A likely plays important pathophysiological roles in synaptic plasticity during development and injury. | Bor Luen Tang | 2020 | Neural Regeneration Research2020，15，11： | 7 |
| 9 | Burden of care in caregivers of patients with alcohol use disorder and schizophrenia and its association with anxiety, depression and quality of life显示文摘Background Caregivers play a pivotal role in providing care for mentally ill patients.Increase in caregiver burden can make them vulnerable to mental illness themselves.Aims We assessed the severity of burden of care and its association with depression,anxiety and quality of life among caregivers of patients with alcohol use disorder(AUD)and schizophrenia.Methods This was an observational,cross-sectional,single-centred study of 50 consecutive caregivers of patients with AUD and schizophrenia.Participants were recruited from the psychiatry outpatient department of a tertiary care hospital between January and June 2017.The caregivers were further assessed by demographic details,Hospital Anxiety Depression Scale for assessment of depression and anxiety,Zarit Burden Interview for assessment of caregiver burden and WHO Quality Of Life-BREF for assessment of quality of life.Statistical data were analysed using GraphPad InStat V.3.06(California).Multiple linear regression analysis was applied to identify the predictors of caregiver burden.Results Burden of care experienced by caregivers of patients with AUD is as high as that of caregivers of patients with schizophrenia(U=1142.5,p=0.46).Caregivers experiencing high burden of care are likely to have symptoms of anxiety(U=22,p<0.001),depression(U=32,p<0.001)and poor quality of life(U=84.5,p<0.001).Female caregivers are likely to experience higher burden of care(U=819.5,p=0.006).For caregivers of patients with schizophrenia,anxiety,environmental health,socioeconomic status and patients,occupation can predict burden of care,while for caregivers of patients with AUD,depression and environmental health can predict burden of care.Conclusion Our study suggests that caregivers of patients with AUD experience burden of care as high as that of caregivers of patients with schizophrenia.Caregivers with high burden of care are more likely to have depression,anxiety and poor quality of life.Trial registration number CTRI/2017/03/008224. | Sneha Vadher Rishi Desai Bharat Pancha Ashok Vala Imran Jahangirali Ratnani Mihir P Rupani Kinjal Vasava | 2020 | General Psychiatry2020，33，4： | 7 |
| 10 | Two Reemergent Cases of COVID-19—Hebei Province,China,January 2,2021显示文摘On January 2,2021,2 cases of coronavirus disease 2019(COVID-19)were identified in 2 cities of Hebei Province,and genomic sequencing suggested that the cases likely resulted from the same origin.The first case(Patient A)was identified as positive at 12∶18 in Shijiazhuang City,the capital of Hebei Province,and the second case(Patient B)was identified as positive at 21∶00 in Xingtai City. | Shunxiang Qi Xiang Zhao Peter Hao Nankun Liu George F.Gao Yang Song Wenbo Xu Qi Li | 2021 | China CDC weekly2021，3，2： | 7 |
| 11 | ON THE NUMBER OF EULERIAN PLANAR MAPS显示文摘This paper presents the number of combinatorially distinct rooted Eulerian planar maps with the number of non-root-vertices and the number of non-root-faces as two parameters. The parametric expressions for determining the number in the loopless Eulerian case are also obtained. | 刘彦佩 | 1992 | Acta Mathematica Scientia1992，12，4： | 7 |
| 12 | Diversity and redundancy of the ripening regulatory networks revealed by the fruitENCODE and the new CRISPR/Cas9 CNR and NOR mutants显示文摘Tomato is considered as the genetic model for climacteric fruits,in which three major players control the fruit ripening process:ethylene,ripening transcription factors,and DNA methylation.The fruitENCODE project has now shown that there are multiple transcriptional circuits regulating fruit ripening in different species,and H3K27me3,instead of DNA methylation,plays a conserved role in restricting these ripening pathways.In addition,the function of the core tomato ripening transcription factors is now being questioned.We have employed CRISPR/Cas9 genome editing to mutate the SBP-CNR and NAC-NOR transcription factors,both of which are considered as master regulators in the current tomato ripening model.These plants only displayed delayed or partial non-ripening phenotypes,distinct from the original mutant plants,which categorically failed to ripen,suggesting that they might be gain-of-function mutants.Besides increased DNA methylation genome-wide,the original mutants also have hyper-H3K27me3 in ripening gene loci such as ACS2,RIN,and TDR4.It is most likely that multiple genetic and epigenetic factors have contributed to their strong non-ripening phenotypes.Hence,we propose that the field should move beyond these linear and twodimensional models and embrace the fact that important biological processes such as ripening are often regulated by highly redundant network with inputs from multiple levels. | Ying Gao Ning Zhu Xiaofang Zhu Meng Wu Cai-Zhong Jiang Donald Grierson Yunbo Luo Wei Shen Silin Zhong Da-Qi Fu Guiqin Qu | 2019 | Horticulture Research2019，6，1： | 7 |
| 13 | Early life exposure to per-and polyfluoroalkyl substances(PFASs):A critical review显示文摘Due to the dynamic developmental processes during pregnancy,infancy,childhood and adolescence,exposure to PFASs is hypothesized to have the most pronounced negative effects during this period.In this review we critically evaluate the current state of the science regarding human early life exposure processes(until 18 years of age)to per-and polyfluoroalkyl substances(PFASs).Efficient placental transfer of perfluoroalkyl acids(PFAAs)results in relatively high prenatal exposure compared with many neutral organic contaminants.The few biomonitoring studies that specifically target infants,toddlers and other children suggest relatively high serum concentrations of perfluorooctane sulfonic acid(PFOS)and perfluorooctanoic acid(PFOA)in early life with peak concentrations occurring sometime before the child reaches 20 months.This peak in serum concentrations is most likely explained by exposure via breastfeeding,ingestion of house dust and/or specific contact events with consumer products leading to high body weight normalized estimated daily intakes(EDIs).Although children have higher EDIs of PFASs than adults,these are not always reflected by higher serum levels of PFASs in children in cross-sectional biomonitoring studies due to the confounding effect of age and birth cohort,and different exposure histories due to production changes.Longitudinal exposure studies measuring internal and external exposure(for multiple pathways and PFASs)at several time points during early life are strongly encouraged to understand temporal changes in exposure of individual children.A better quantitative understanding of early life exposure processes would help to improve the validity of epidemiological studies and allow informed decisions regarding setting of regulatory thresholds and appropriate mitigation actions. | Kerstin Winkens Robin Vestergren Urs Berger Ian TCousins | 2017 | Emerging Contaminants2017，3，2： | 6 |
| 14 | Integrated analysis of high-throughput sequencing data shows abscisic acidresponsive genes and miRNAs in strawberry receptacle fruit ripening显示文摘The perception and signal transduction of the plant hormone abscisic acid(ABA)are crucial for strawberry fruit ripening,but the underlying mechanism of how ABA regulates ripening-related genes has not been well understood.By employing high-throughput sequencing technology,we comprehensively analyzed transcriptomic and miRNA expression profiles simultaneously in ABA-and nordihydroguaiaretic acid(NDGA,an ABA biosynthesis blocker)-treated strawberry fruits with temporal resolution.The results revealed that ABA regulated many genes in different pathways,including hormone signal transduction and the biosynthesis of secondary metabolites.Transcription factor genes belonging to WRKY and heat shock factor(HSF)families might play key roles in regulating the expression of ABA inducible genes,whereas the KNOTTED1-like homeobox protein and Squamosa Promoter-Binding-like protein 18 might be responsible for ABA-downregulated genes.Additionally,20 known and six novel differentially expressed miRNAs might be important regulators that assist ABA in regulating target genes that are involved in versatile physiological processes,such as hormone balance regulation,pigments formation and cell wall degradation.Furthermore,degradome analysis showed that one novel miRNA,Fa_novel6,could degrade its target gene HERCULES1,which likely contributed to fruit size determination during strawberry ripening.These results expanded our understanding of how ABA drives the strawberry fruit ripening process as well as the role of miRNAs in this process. | Dongdong Li Wangshu Mou Rui Xia Li Li Christopher Zawora Tiejin Ying Linchun Mao Zhongchi Liu Zisheng Luo | 2019 | Horticulture Research2019，6，1： | 6 |
| 15 | China-Related Research in Auditing: A Review and Directions for Future Research显示文摘1.Introduction Academic research concerning independent audits of financial statements,including the economic incentives and relations surrounding audit contracts and audit processes,is relatively new.Prior to the mid-1970’s,auditing was viewed as a purely practical activity,governed by technical rules largely set by the profession itself.But of course,auditing | Dan A. Simunic Xi Wu | 2009 | China Journal of Accounting Research2009，，2： | 6 |
| 16 | Analyses of oligodontia phenotypes and genetic etiologies显示文摘Oligodontia is the congenital absence of six or more teeth and comprises the more severe forms of tooth agenesis.Many genes have been implicated in the etiology of tooth agenesis,which is highly variable in its clinical presentation.The purpose of this study was to identify associations between genetic mutations and clinical features of oligodontia patients.An online systematic search of papers published from January 1992 to June 2021 identified 381 oligodontia cases meeting the eligibility criteria of causative gene mutation,phenotype description,and radiographic records.Additionally,ten families with oligodontia were recruited and their genetic etiologies were determined by whole-exome sequence analyses.We identified a novel mutation in WNT10A(c.99_105dup)and eight previously reported mutations in WNT10A(c.433 G>A;c.682 T>A;c.318 C>G;c.511.C>T;c.321 C>A),EDAR(c.581 C>T),and LRP6(c.1003 C>T,c.2747 G>T).Collectively,20 different causative genes were implicated among those 393 cases with oligodontia.For each causative gene,the mean number of missing teeth per case and the frequency of teeth missing at each position were calculated.Genotype–phenotype correlation analysis indicated that molars agenesis is more likely linked to PAX9 mutations,mandibular first premolar agenesis is least associated with PAX9 mutations. | Mengqi Zhou Hong Zhang Heather Camhi Figen Seymen Mine Koruyucu Yelda Kasimoglu Jung-Wook Kim Hera Kim-Berman Ninna M.R.Yuson Paul J.Benke Yiqun Wu Feng Wang Yaqin Zhu James P.Simmer Jan C-C.Hu | 2021 | International Journal of Oral Science2021，13，3： | 5 |
| 17 | Reemergent Cases of COVID-19--Dalian City,Liaoning Province,China,July 22,2020显示文摘From July 22-23,3 local COVID-19 cases were reported in Dalian City,Liaoning Province,China.All 3 patients reported that they did not leave Dalian 14 days before the onset of disease and had no COVID-19 case contact history and no foreign personnel contact history.Epidemiological investigation,medical isolation,and nucleic acid detection was immediately carried out in Dalian,and 12 asymptomatic infections were detected in close contacts of Patient 1.Because asymptomatic infections made up a large proportion of total infections,the outbreak was likely observed in the beginning stages. | Xiang Zhao Lingling Mao Jianqun Zhang Yong Zhang Yang Song Zhijian Bo Hong Wang Ji Wang Cao Chen Jinbo Xiao Tianjiao Ji Qian Yang Wenbo Xu Dayan Wang Wenqing Yao | 2020 | China CDC weekly2020，2，34： | 5 |
| 18 | Predictors of dysphagia screening and pneumonia among patients with acute ischaemic stroke in China:findings from the Chinese Stroke Center Alliance(CSCA)显示文摘Background and purpose Guidelines recommend dysphagia screening to identify those at high risk of pneumonia.However,little is known about the prevalence and predictors of dysphagia screening and pneumonia among patients with acute ischaemic stroke in China.Methods Using data from the Chinese Stroke Center Alliance,which is a multicentre,prospective,consecutive patient enrolment programme,univariate and multivariate analyses were conducted to identify patient and hospital characteristics associated with dysphagia screening and pneumonia during acute hospitalisation.Results Of 790811 patients admitted to 1476 hospitals,622718(78.7%)underwent dysphagia screening,and 64398(8.1%)developed pneumonia.Patients in stroke units were more likely to be screened for dysphagia than those not in stroke units(OR 1.50;95%CI 1.48 to 1.52),while patients with a past history of stroke were less likely to be screened(OR 0.87;95%CI 0.86 to 0.88).Dysphagia screening(OR 1.46;95%CI 1.30 to 1.65),dysphagia(OR 7.31;95%CI 7.15 to 7.46),and admission to stroke units(OR 1.17;95%CI 1.14 to 1.19)were significantly associated with a greater risk of pneumonia.Conclusions Dysphagia was a critical factor in the development of pneumonia.Nearly one in five patients with acute ischaemic stroke in the Chinese Stroke Center Alliance were not screened for dysphagia.Pneumonia prevention during acute hospitalisation is dependent not only on dysphagia screening but also on the effectiveness of subsequent dysphagia management interventions.Further studies are needed to elucidate the relationship between dysphagia screening,stroke unit care and pneumonia in patients with acute ischaemic stroke. | Jianshu Liang Zhike Yin Zixiao Li Hongqiu Gu Kaixuan Yang Yunyun Xiong Yongjun Wang Chunjuan Wang | 2022 | Stroke & Vascular Neurology2022，7，4： | 5 |
| 19 | 初探英语中的性别歧视显示文摘西方在第二次世界大战后,特别是在经历了始于本世纪60年代的妇女解放运动以后,以女权主义者为首的一部份人开始注重女性的社会地位。 | 杜文礼 | 1993 | 山东外语教学1993，14，2： | 5 |
| 20 | Novel MSX1 variants identified in families with nonsyndromic oligodontia显示文摘The goal of this study was to identify MSX1 gene variants in multiple Chinese families with nonsyndromic oligodontia and analyse the functional influence of these variants.Whole-exome sequencing(WES)and Sanger sequencing were performed to identify the causal gene variants in five families with nonsyndromic oligodontia,and a series of bioinformatics databases were used for variant confirmation and functional prediction.Phenotypic characterization of the members of these families was described,and an in vitro analysis was performed for functional evaluation.Five novel MSX1 heterozygous variants were identified:three missense variants[c.662A>C(p.Q221P),c.670C>T(p.R224C),and c.809C>T(p.S270L)],one nonsense variant[c.364G>T(p.G122*)],and one frameshift variant[c.277delG(p.A93Rfs*67)].Preliminary in vitro studies demonstrated that the subcellular localization of MSX1 was abnormal with the p.Q221P,p.R224C,p.G122*,and p.A93Rfs*67 variants compared to the wild type.Three variants(p.Q221P,p.G122*,and p.A93Rfs*67)were classified as pathogenic or likely pathogenic,while p.S270L and p.R224C were of uncertain significance in the current data.Moreover,we summarized and analysed the MSX1-related tooth agenesis positions and found that the type and variant locus were not related to the severity of tooth loss.Our results expand the variant spectrum of nonsyndromic oligodontia and provide valuable information for genetic counselling. | Jinglei Zheng Miao Yu Haochen Liu Tao Cai Hailan Feng Yang Liu Dong Han | 2021 | International Journal of Oral Science2021，13，1： | 4 |
您所在的机构暂未开通此部分的功能，请联系管理员